Gene
ehmt1b
- ID
- ZDB-GENE-080515-3
- Name
- euchromatic histone-lysine N-methyltransferase 1b
- Symbol
- ehmt1b Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to enable histone H3K9 methyltransferase activity. Predicted to be involved in epigenetic regulation of gene expression and negative regulation of transcription by RNA polymerase II. Predicted to be located in chromosome. Predicted to be active in chromatin and nucleus. Human ortholog(s) of this gene implicated in Kleefstra syndrome and Kleefstra syndrome 1. Orthologous to human EHMT1 (euchromatic histone lysine methyltransferase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Sun et al., 2008
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la021819Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa13273 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa17604 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa37259 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa43606 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa43607 | Allele with one point mutation | Unknown | Splice Site | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Kleefstra syndrome 1 | Alliance | Kleefstra syndrome 1 | 610253 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Ankyrin repeat | Ankyrin repeat-containing domain superfamily | EHMT1/2, cysteine-rich region | Histone-lysine N-methyltransferase EHMT1/EHMT2 | Pre-SET domain | SET domain | SET domain superfamily |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M1NVV8 | InterPro | 1278 | |||||||
| UniProtKB:A0A8M9PI65 | InterPro | 1285 | |||||||
| UniProtKB:A0A8M3AWQ8 | InterPro | 1265 | |||||||
| UniProtKB:A0A8M3AM13 | InterPro | 1286 | |||||||
| UniProtKB:A0A8M3B4K4 | InterPro | 1288 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
ehmt1b-201
(1)
|
Ensembl | 5,362 nt | ||
| mRNA |
ehmt1b-202
(1)
|
Ensembl | 4,502 nt | ||
| ncRNA |
ehmt1b-002
(1)
|
Ensembl | 918 nt | ||
| ncRNA |
ehmt1b-003
(1)
|
Ensembl | 862 nt | ||
| ncRNA |
ehmt1b-004
(1)
|
Ensembl | 625 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-38J13 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-16H22 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001172564 (1) | 5362 nt | ||
| Genomic | GenBank:CR936260 (1) | 212463 nt | ||
| Polypeptide | UniProtKB:A0A8M9P384 (1) | 1295 aa |
- Lu, C.J., Fan, X.Y., Guo, Y.F., Cheng, Z.C., Dong, J., Chen, J.Z., Li, L.Y., Wang, M.W., Wu, Z.K., Wang, F., Tong, X.J., Luo, L.F., Tang, F.C., Zhu, Z.Y., Zhang, B. (2018) Single-cell analyses identify distinct and intermediate states of zebrafish pancreatic islet development. Journal of molecular cell biology. 11(6):435-447
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
- Huang, H.T., Kathrein, K.L., Barton, A., Gitlin, Z., Huang, Y.H., Ward, T.P., Hofmann, O., Dibiase, A., Song, A., Tyekucheva, S., Hide, W., Zhou, Y., and Zon, L.I. (2013) A network of epigenetic regulators guides developmental haematopoiesis in vivo. Nature cell biology. 15(12):1516-1525
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Sun, X.J., Xu, P.F., Zhou, T., Hu, M., Fu, C.T., Zhang, Y., Jin, Y., Chen, Y., Chen, S.J., Huang, Q.H., Liu, T.X., and Chen, Z. (2008) Genome-Wide Survey and Developmental Expression Mapping of Zebrafish SET Domain-Containing Genes. PLoS One. 3(1):e1499
- Wang, D., Jao, L.E., Zheng, N., Dolan, K., Ivey, J., Zonies, S., Wu, X., Wu, K., Yang, H., Meng, Q., Zhu, Z., Zhang, B., Lin, S., and Burgess, S.M. (2007) Efficient genome-wide mutagenesis of zebrafish genes by retroviral insertions. Proceedings of the National Academy of Sciences of the United States of America. 104(30):12428-12433
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